Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.

Maha Yektay FarahmandJohan WasseliusElisabet EnglundIrwin BravermanAndreas PuschmannAndreea Ilinca

Published in: Neurologia i neurochirurgia polska (2023)

Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.

Keyphrases

risk factors
end stage renal disease
chronic kidney disease
cerebral ischemia
resting state
white matter
copy number
ejection fraction
atrial fibrillation
prognostic factors
functional connectivity
early onset
multiple sclerosis
gene expression
soft tissue
patient reported outcomes
dna methylation